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Abstract #21064 Published in IGR 10-2
Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome
Kaminska A; Sokolowska-Oracz A; Pawluczyk-Dyjecinska M; Szaflik JPKlinika Oczna 2007; 109: 321-326
PURPOSE: Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies. This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family. MATERIAL AND METHODS: Three members of the family: patient 1-father (54 years old), patient 2 - son (31 years old), and patient 3 - daughter (30 years old), underwent complete ophthalmic examination, including standard glaucoma diagnostics. Additional investigations, such as: ultrasound biomicroscopy (UBM, Opticon 2000), corneal topography Orbscan Il (Bausch & Lomb, Inc., Rochester, N. Y., USA), corneal confocal microscopy ConfoScan 3 (Nidek Technologies), central corneal thickness measurements with optical low-coherence reflectometer (OLCR, pachymeter Haag-Streit), were carried out. It was impossible to perform complete eye examination in one case (patient 1) because of severity of ocular changes. RESULTS: All family members described had iris abnormalities (hypoplastic iris stroma) and early-onset glaucoma, however severity of symptoms were different in each case. The most advanced disease was recognized in patient 1. Other findings included: posterior embryotoxon (patients 2 and 3), iridocorneal angle abnormalities (patients 2 and 3), microcornea (patient 2) and extraocular features (patients 1 and 2): dental anomalies (microdontia and hypodontia), maxillary hypoplasia and periumbilical skin fold. All of these symptoms supported the diagnosis of Axenfeld-Rieger syndrome. In addition, we also diagnosed keratoconus in patient 2 and hypermetropia, strabismus and corneal scar in patient 3. CONCLUSIONS: Reported cases of Axenfeld-Rieger syndrome demonstrate phenotypic variability of the disease among family members, which is characteristic for this disorder and can cause diagnostic problems. LA: Polish
Dr. A. Kaminska, Samodzielny Publiczny Kliniczny Szpital Okulistyczny, ul. Sierakowskiego 13, 03-709 Warschau, Poland
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)